Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 8
Results: 25
The RNA-binding protein Rbfox1 regulates splicing required for skeletal muscle structure and function.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2360, doi. 10.1093/hmg/ddv003
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- Article
CORRIGENDUM.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2409, doi. 10.1093/hmg/ddv011
- Publication type:
- Article
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2375, doi. 10.1093/hmg/ddv004
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Dynamics of smoking-induced genome-wide methylation changes with time since smoking cessation.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2349, doi. 10.1093/hmg/ddu751
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- Article
TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2330, doi. 10.1093/hmg/ddu750
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- Article
Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2318, doi. 10.1093/hmg/ddu749
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- Article
Early Parkinson's disease symptoms in a-synuclein transgenic monkeys.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2308, doi. 10.1093/hmg/ddu748
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- Article
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2297, doi. 10.1093/hmg/ddu747
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Hepatic lentiviral gene transfer prevents the long-term onset of hepatic tumours of glycogen storage disease type 1a in mice.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2287, doi. 10.1093/hmg/ddu746
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Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2274, doi. 10.1093/hmg/ddu745
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- Article
CRIM1 haploinsufficiency causes defects in eye development in human and mouse.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2267, doi. 10.1093/hmg/ddu744
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- Article
MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2247, doi. 10.1093/hmg/ddu743
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- Article
Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2241, doi. 10.1093/hmg/ddu742
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- Article
Low dietary protein content alleviates motor symptoms in mice with mutant dynactin/dynein-mediated neurodegeneration.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2228, doi. 10.1093/hmg/ddu741
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- Article
Toll-like receptor 4 ablation in mdx mice reveals innate immunity as a therapeutic target in Duchenne muscular dystrophy.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2147, doi. 10.1093/hmg/ddu735
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- Article
Prenatal exposure to maternal smoking and offspring DNA methylation across the lifecourse: findings from the Avon Longitudinal Study of Parents and Children (ALSPAC).
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2201, doi. 10.1093/hmg/ddu739
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Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2185, doi. 10.1093/hmg/ddu738
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- Article
The Fragile X proteins Fmrp and Fxr2p cooperate to regulate glucose metabolism in mice.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2175, doi. 10.1093/hmg/ddu737
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- Article
Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2163, doi. 10.1093/hmg/ddu736
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Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2218, doi. 10.1093/hmg/ddu740
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The SMN structure reveals its crucial role in snRNP assembly.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2138, doi. 10.1093/hmg/ddu734
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Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2125, doi. 10.1093/hmg/ddu733
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Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2390, doi. 10.1093/hmg/ddu731
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- Article
Structural basis for misfolding in myocilin-associated glaucoma.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2111, doi. 10.1093/hmg/ddu730
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A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2401, doi. 10.1093/hmg/ddu732
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- Article